Cell & Nuclear Division

Cell Division consists of:

Nuclear Division
Process of separating nuclear DNA to daughter cells
Can refer either to mitosis or meiosis
Cytoplasmic Division
the process of separating cytoplasm and organelles to
daughter cells
Roles of Mitosis:
Unicellular Organisms: Cell division results in genetically
identical daughter cells by asexual reproduction
Multicellular Organisms
Cell division enables sexually reproducing organism to grow and
develop from a single cell such as the zygote. After an organism is
fully grown, cell division continues to function in renewal and repair,
replacing cells that die from normal wear and tear or accidents.
Ploidy: number of sets of chromosomes within the nucleus of a cell
n: the number of chromosomes in a set
Chromatin: the complex of nucleic acid and associated histone and
non-histone proteins; in an uncoiled and diffused state present during
interphase of the cell cycle, or in non-dividing cells
Chromosome: the condensed form of chromatin; additional proteins
known as scaffolding proteins are associated with chromosomes and
aid in their condensation; most visible during mitosis and meiosis
Genes: hereditary units located at specific physical locations along
each chromosome i.e. locus
Homologous chromosomes: a pair of chromosomes which are
structurally, but not genetically identical; similar in size, shape,
centromere position and sequence of gene loci
Homolog: each chromosome of a pair of homologous chromosomes
Sister chromatids: replicated forms of a single chromosome joined
together by the centromere; structurally and genetically identical;
same alleles due to semi-conservative replication
Centromere: the specialised region where two sister chromatids join;
associated with kinetochores for attachment of spindle fibres and is the
last place to separate in cell division
Kinetochore: structure formed by proteins on specific sections of the
centromere, to which microtubules of the spindle are attached to,
playing an active part in the movement of chromosomes to the
opposite poles
Centriole: a barrel-shaped organelle which is found only in animal
cells and exists as a cylindrical pair in the cytoplasm; each member of
the pair is composed of nine triplets of microtubules arranged in a ring;
members of the pair are perpendicular to each other, located in the
centrosome. At the onset of mitosis, Centriole pairs duplicate and each
pair moves to the opposite poles of the cell, establishing the two poles
of the cell.
Centrosome: a specialised region of the cell that includes a pair of
centrioles and the surrounding cytoplasm, which contains proteins that
aid in the assembly of spindle microtubules; aka microtubule
organising centre
Spindle fibres: an organised system of microtubules that attaches to
the centromeric regions of duplicated chromosomes and draws them to
opposite poles during eukaryotic cell division:
Astral spindle fibres radiate from the centriole towards the
peripheral regions of the cells; only present in cells that contain
centrioles; serve as a brace for the functioning of the spindle fibres
Kinetochore spindle fibres fibres attached to the kinetochore of
the chromatids; pull the sister chromatids towards the opposite
poles of the cell during anaphase
Polar/non-kinetochore spindle fibres fibres running from pole to
pole overlapping at the equator of the spindle; responsible for
elongating the whole cell along the polar axis during anaphase
Mitosis Cell Cycle (let x be the relative DNA amount)
G1 Phase (2n, x): begins after cytokinesis of the previous cell division.
Cells are thus small in size and low in ATP. Hence, cells increase in size
and acquire ATP during this phase. Intensive cellular gene expression
and synthesis of appropriate organelles and proteins
S Phase (2n, 2x): Each DNA molecule undergoes DNA replication,
resulting in the production of two identical molecules of DNA. Each
replicated chromosome now consists of 2 genetically identical sister
chromatids held together at the centromere
G2 Phase (2n, 2x): since the formation of new DNA is an energy-
consuming process, the cell undergoes a second growth and energy
acquisition stage. Further synthesis of appropriate organelles and
proteins occurs. Centrioles replicate and mitotic spindle begins to form
Changes during interphase:
DNA is highly condensed from chromatin to visible chromosomes
Nuclear envelope starts to disintegrated and chromosomes are
released into the cytoplasm
Nucleolus no longer present, cell is now transcriptionally inactive
Prophase (2n, 2x):
In the nucleus,
Nuclear envelope disintegrates (breaks up into small vesicles
which disperse)
Nucleolus gradually disappears
Chromatin fibres condense by supercoiling to become tightly
coiled and folded into discrete, observable chromosomes
In the cytoplasm,
In animal cells, centriole pairs migrate to opposite poles of the
cell
Kinetochore spindle fibres begin to assemble
Astral spindle fibres are seem radiating from the centrioles
Polar spindle fibres extend from each pole toward the equator of
the cell
Metaphase (2n, 2x):
Centriole pairs are positioned at opposite poles of the cell
Shortening and thickening of the chromosomes is at its
maximum, and the two sister chromatids joined at the
centromeres of each chromosome are clearly visible
Kinetochores migrate and align singly at the metaphase plate,
which is the plane equidistant from the spindle poles
They are pulled to the metaphase plate by the action of
kinetochore spindle fibres
 There is no pairing of homologous chromosomes at the
metaphase plate
Anaphase (4n, 2x)
Begins with the separation of the centromeres of sister
chromatids
Chromatids are now known as daughter chromosomes
Daughter chromosomes are pulled to opposite poles of the cell as
their kinetochore microtubules shorten
At the same time, the poles of the cell move further apart as the
polar spindle fibres slide past each other, hence elongating the
cell
Special motor proteins are involved in the rapid and abrupt
movement of chromosomes towards the poles of the cell during
anaphase
At the end of anaphase, the two ends of the cell have equal and
complete set of chromosomes
Telophase (2n, x)
Begins when the daughter chromosomes reach the poles of their
respective spindles
Condensed chromosomes decondense and uncoil into the
chromatin form
Nucleolus and nuclear envelope reform
Results in the two nuclei taking on the granular appearance of
interphase
Spindle fibres disassemble
Cytokinesis (2n, x)
Division of cytoplasm to produce two completely separated
daughter cells
Cell organelles become evenly distributed towards 2 poles of the
parent cell, along with the chromosomes, during Telophase
Two smaller, genetically identical cells result
Generally begins simultaneously with Telophase
Animal cell: form cleavage furrow, which pinches cell in two. On
 the cytoplasmic side of the furrow is a contractile ring of
microfilaments. As the ring contracts, the cleavage furrow
deepens until the parent cell pinches into two daughter cells,
each with a complete nucleus and share of cytosol, organelles
and other subcellular structures
Plant cell: no cleavage furrow formed. A cell plate grows across
the metaphase plate. Vesicles from the golgi apparatus move to
the middle of the cell, where they fuse, producing a cell plate.

Roles of Meiosis:
Result in the production four haploid daughter cells, each
containing half the number of chromosomes of the original
parent cell
Production of gametes with haploid sets of chromosomes
Maintain the constancy of chromosome number from generation
of generation by preventing the doubling of chromosomal
number with each generation
Meiosis Cell Cycle
Meiosis I: known as reduction division where chromosome
number and ploidy level are reduced by half
Amount of DNA is the same as that of the parent cell before
replication
Synapsis and crossing-over of homologous chromosomes have
occurred and their subsequent segregation to different daughter
cells

Interphase (2n, x -> 2n, 2x)

Precedes meiosis I and includes DNA replication
This process of replication is similar to the DNA replication
preceding mitosis
The chromosomes only replicate once throughout meiosis
Pair of centrioles also replicate during interphase
Prophase I (2n, 2x)
 Nucleolus disappears and nuclear membrane disintegrates
Spindle fibres begin to form and kinetochore spindle fibres
attach to the centromeres of chromosomes
Chromatin condenses and thickens until the chromosomes
become distinct
Homologous chromosomes pair up and form a bivalent
Four chromatids in each bivalent are collectively known as a
tetrad
The physical pairing is known as synapsis, where the
homologues are bridged by a synaptonemal complex
This process is precise and brings the genes on each
chromosome into precise alignment
Chiasmata is formed between non-sister chromatids of
homologous chromosomes at one or more points
Crossing-over takes place where non-sister chromatids
undergo exchange of genetic material. As a result, sister
chromatids are now genetically non-identical and are known
as recombinant chromatids
Metaphase I (2n, 2x)
Kinetochore spindle fibres from one pole of the cell attach to
one chromosome (homologue) of each bivalent, while
kinetochore spindle fibres from the opposite pole attach to the
other homologue
Pair of homologous chromosomes or bivalents randomly align
at the metaphase plate/ equatorial plate
Independent assortment of homologous chromosomes occurs
at this stage: when a bivalent lines up on the metaphase plate,
the orientation of homologues towards the poles in any one
bivalent is random, and is independent of that of any other
bivalent
Anaphase I (2n, 2x)
The two homologous chromosomes of each bivalent
separate and move towards the opposite spindle poles of the
cell
Homologous chromosomes are segregated to opposite
poles, centromeres first, producing a characteristic V-shaped
 pattern
The centromeres in anaphase I remain intact and the sister
chromatids remain attached to each other
Their physical segregation is referred to as disjunction,
meaning the separation of chromosomes from one another
Telophase I (n, x)
Chromosomes arrive at opposite poles of the cell
Spindle fibres usually disassemble
Chromatids usually uncoil and a nuclear envelope reforms
around each set of chromosomes
Nuclei formed are haploid because the chromosome number
and ploidy level have been halved
Each of the chromosomes still exists as two chromatids joined
at the centromeres, which may not be genetically identical due
to crossing-over
Cytokinesis I (n, x)
Occurs simultaneously with Telophase I forming haploid
daughter cells

Meiosis II: known as equational division as chromosome number

does not change, while amount of DNA in daughter cells are half of
that of the parent cell before replication
Crossing over may have occurred during prophase I of meiosis I, the
chromatids in meiosis II may not be genetically identical to each
other
Variation due to crossing over, independent assortment and random
fertilisation
Prophase II (n, x)
Nucleoli disperse and nuclear envelopes disintegrate
Chromatin undergoes condensation and thickening to reform
distinct chromosomes
In animal cells, centrioles move to opposite poles of the cells at
the end of prophase II
 New spindle fibres appear and are arranged at right angles to
the spindle of meiosis I
Metaphase II (n, x)
Kinetochore spindle fibres attach to the kinetochores at the
centromeres of the chromosomes
Chromosomes migrate and align singly at the metaphase
plate/equatorial plate of the cell
Metaphase plate of meiosis II is perpendicular to that of meiosis I
Anaphase II (2n, x)
Centromeres segregate and the two chromatids segregate to
opposite poles
Chromatids are now called daughter chromosomes
Poles of the cell move further apart as the polar spindle fibres
slide past each other, hence elongating the cell
Telophase II (n, x)
Chromosomes uncoil and decondense
Spindle fibres disassemble
Nuclear envelope reform around each nucleus

Cytokinesis (n, x)
4 haploid genetically non-identical gametes are produced
Genetic Basis for Variation

Gene: a unit of inheritance located at a particular locus of a

chromosome, with a particular locus of a chromosome; it determines
the phenotype of an individual
Locus: the specific location of a gene on a chromosome
Genotype: complete genetic makeup of an organism; term used in
reference to the paired alleles carried by an organism that give rise to
a phenotype
Phenotype: physical manifestation of a genetic trait that results from
a specific genotype and its interaction with the environment
Wild type: the phenotype most common in nature
Allele: An alternative form of a gene at a particular gene locus
responsible for determining contrasting traits of the same character; all
alleles of a gene determine the same character, but each has a unique
nucleotide sequence, which may result in different phenotype
Dominant Alleles: produce their effects in both the homozygous and
heterozygous condition; mask the influence of the recessive allele
Recessive Alleles: produce their effects only in the homozygous
condition
Homozygous: condition in which the alleles of a gene pair in a diploid
condition are identical
Heterozygous: condition in which the alleles of a gene pair in a
diploid condition are different
Heredity: transmission of genetic characteristics from one generation
to the next and the effects of this transmission
Variation: recognisable differences between individuals of the same
species and even between parents and offspring
Hybridisation: mating or crossing of two true-breeding varieties

Mendels First Law of Segregation is based on Mendels work

involving monohybrid crosses (Monohybrid inheritance).
Mendels Second Law of Independent Assortment is based on his
work involving dihybrid crosses (Dihybrid inheritance), stating
segregation of one pair of alleles is independent of the
segregation of other pairs.
Linking Genotype to Phenotype
Inheritance of genes
DNA replication
During S phase of interphase, genes on chromosomes are
replicated; via semi-conservative DNA replication
Monohybrid Inheritance: the inheritance of a single character of
contrasting traits
Incomplete Dominance: condition in which neither of the two alleles
is completely dominant to the other, so that the heterozygote has a
phenotype which is intermediate
E.g. Colour of Snapdragon
Postulate that the allele CR allows for the production of a functional
enzyme required for the synthesis of red pigment and CW for a non-
functional enzyme. Heterozygotes possess only one copy of the allele
per cell and hence produce inadequate enzyme to synthesize enough
red pigment as compared to a homozygote. Consequently,
heterozygotes are pink.
Codominance: condition in which both alleles are equally expressed
in the phenotype of the heterozygote. The heterozygote
simultaneously expresses the phenotypes of both types of
homozygotes
E.g. coat colour of short horn cattle
Both alleles of a gene code for functional products. Both products
appear in the phenotype of the heterozygote. In the example, the
heterozygote has a roan coat that consists of a mixture of red and
white hairs.
**for incomplete dominance, the heterozygote phenotype is
intermediate between the two homozygote phenotype, while for
codominance, the heterozygote phenotype is not intermediate, but
equal expression of both parental traits
Lethal Genes: cause death, frequently at an early developmental
stage
Multiple Alleles: three or more alleles controlling a characteristic in a
population e.g. ABO blood group in humans
Dihybrid Inheritance: Inheritances of two pairs of contrasting
characters at the time in each dihybrid cross
Monohybrid Crosses Genotypic Ratio Phenotypic Ratio
DD x dd All Dd All heterozygous
dominant
Dd x Dd 1DD : 2Dd : 1dd 3:1
Dd x dd (Test cross) 2Dd : 2dd 1:1
CDCd x CDCd 1CDCD : 2CDCd : 1CdCd 1:2:1
Lethal Genes 2Dd : 1dd 2:1 (1/4 of offspring
dies)
Dihybrid Crosses Genotypic Ratio Phenotypic Ratio
AABB x aabb All AaBb All heterozygous
dominant
AaBb x AaBb 9A_B_ : 3A_bb : 3aaB_ : 9:3:3:1
1aabb
AaBb x aabb (Test cross) 4A_B_ : 4A_bb : 4 aaB_ : 1:1:1:1
4aabb

Sex Chromosomes
the 23rd pair of XY chromosomes
Sex Linkage: the carrying of genes on the sex chromosomes
X chromosome contains many loci that are required in both
sexes, whereas the Y chromosome contains only a few genes
Genes located on the X chromosome are known as sex-linked
genes because they follow the transmission pattern of the
X chromosome
E.g. haemophilia, red-green colour blindness and Duchenne
muscular dystrophy in humans, and white eye colour in
Drosophila
Human X-linked disorders
Sex-linked inheritance tend to affect males as they are always
hemizygous for every sex-linked locus
As males possess only a single X chromosome, every X
chromosome allele present is expressed
Haemophilia: reduced ability of blood clotting, due to deficiency
of one of the blood clotting factors
Haemophilia is more common in males than in females because
males need only one copy of the defective of the defective allele
to suffer from haemophilia whereas females require two copies of
 the defective allele to be affected
Duchenne Muscular Dystrophy: X-linked, recessive condition
affecting muscle development as allele for DMD codes for an
enzyme that induces the replacement of muscle by fibre
Red-green colour blindness: a father with the recessive X-
linked allele will transmit the allele to all daughters but not to
any sons because his son will inherit his Y chromosome only;
chromosome from mother
Reciprocal Cross: a pair of crosses in which the traits of the two
parents are reversed
conducted to discern if a trait is carried on a sex chromosome (X-
linked) or on an autosomal chromosome
Results: male transmits the X chromosome only to his female
offspring (all normal)
female transmits an X chromosome to both male and
female offspring (normal female, affected male)
Autosomal Recessive Inheritance
Gene of interest for the trait is carried on the autosomes
A recessive trait only becomes phenotypically apparent when
two similar alleles of a gene are present
If both parents are affected, all children should be affected
Traits often skip generations
Unaffected parents can produce affected individuals
Autosomal Dominant inheritance
The phenotype it codes for will be expressed even if the
individual is heterozygous
Unaffected parents should not have affected children
Traits should not skip generations
Appear in almost equal numbers among both sexes
Eg. Huntington Disease
Linkage (Mendels Law does not apply): when genes are situated
on the same chromosome
Complete Linkage: assumption that 2 genes are located so closely
together on the same chromosome that they tend to be inherited
together as one unit because no chiasma can be formed in between
them. As a result, no reshuffling of alleles to form new combinations of
alleles
Incomplete Linkage: genes that are located some distance apart
from each other on the same chromosome can be separated when
crossing over during meiosis
*as crossing over is a random process, the separation of coupled
alleles will occur in some cases but not in other. Therefore, offspring
produced show a majority of parental allele combinations and hence
phenotypes and a minority of recombinant allele combinants and
hence phenotypes
Detection of Linkage
test cross with a double homozygous recessive individual can be
performed to detect if genes are unlinked, completely linked or
incompletely linked
if genes are unlinked, 4 different phenotypes in the ratio of
1:1:1:1 are produced
if genes are completely linked, 2 phenotypes in the ratio of 1:1
are produced
if genes are incompletely linked, 4 phenotypes with a larger
percentage of parental phenotypes and smaller percentage of
recombinant phenotypes are produced
Coupling: two dominant alleles are on one chromosome and two
recessive ones are on the homologous partner
Repulsion: dominant allele is linked with recessive on one
chromosome
Chromosome Mapping
chance of crossing over occurring between two linked genes on
the chromosome is proportional to the distance between them
the further apart two linked genes are, the greater the statistical
chance that crossing over will separate them than if they were
closer, and therefore the greater the proportion of recombinants
that will be formed
Cross-over value: recombination frequency
 COV = (number of individuals showing recombination)/(total
number of offspring) x 100%
Causes of Genotypic/Genetic Variation
Process Mechanism Effects
Meiosis & Crossing over, independent assortment and Reshuffles existing
Sexual separation of homologous chromosomes of alleles to form new
Reproductio independent arrangement and separation genetic combination;
n of chromatids and random fertilisation does not result in
new alleles
Gene Deletion, insertion and substitution May result in new
Mutation alleles
Chromosom Deletion, duplication, inversion and May or may not
al mutation/ translocation; change in number of results in new
aberration chromosomes due to non-disjunction alleles

Effect of Environment on Phenotype

Degree of expression of genes may be influenced by the
environment in which the organism develops
Effect of Temperature: Coat colour in Himalayan rabbits
All Himalayan rabbits are homozygous for the Ch allele of the
gene coding for a heat-sensitive form of an enzyme, tyrosinase,
which is needed for melanin production
Tyrosinase is active when the air temperature is below 33oC, thus
there is growth of black fur
The fur-producing cells will not produce the melanin pigment
when exposed to higher temperatures, thus hair of the rabbits
appear light/white
Heat from environment prevents the development of black fur
Effect of soil acidity on Hydrangea Macrophylla
Hydrangea may have different flower colours, despite carrying
the same alleles
The soil acidity in which the plants grow affects the plants ability
to take up aluminium
In acidic soils (pH 5.5 or lower), aluminium assumes a form that
is easily absorbed by plant roots, and thus flowers are
predominantly blue
In alkaline soils (pH 6.5 or higher), aluminium is unavailable and
flower colour is pink purple
 Sometimes a single plant has both blue and pink flowers due to
varying soil condition around the plant
Gene interactions: the idea that two or more genes influence one
particular character
Various gene products function in a metabolic pathway that
contributes to development of one particular phenotype
Two independently assorting genes may interact to influence a
single character
Biochemical basis of comb shape in chickens: different
combinations of alleles from the two genes result in different
phenotypes of a single character, presumably due to the
interaction of their gene products, each of which contributes to
the comb shape at the biochemical or cellular level
Epistasis: when the expression of an allele of one gene
suppresses/inhibits the expression of alleles of a different gene at
a different locus; suppressed gene is termed the hypostatic gene
*Dominant/recessive/duplicate recessive epistasis

Type of Phenoty Genotype Example

interaction pic Ratio A_B_ A_b aaB aab
b _ b
Non-epistatic 9:3:3:1 9 3 3 1 Comb shape in
chickens
Recessive 9:3:4 9 3 4 Coat colour in
epistasis Labrador
retrievers/mice
Dominant 12:3:1 12 3 1 Colour in summer
epistasis squash
complementary 9:7 9 7 Flower colour in
gene interaction sweet pea
Duplicate 9:6:1 9 6 1
interaction
Duplicate 15:1 15 1
dominant
epistasis
Dominant 13:3 13 3
suppression (including
epistasis in aabb)
dihybrid cross

Variation describes the recognisable differences in characteristics

between organisms of the same natural population or species
Discontinuous variation Continuous variation
Observabl Definite and clear cut; Not clear cut and cannot be divided
e can be divided into into distinct contrasting groups
phenotyp discrete phenotypic Range of phenotypes observed
e classes Intermediates are observed
Intermediates are not
observed
No. of Single or a few genes Controlled by the combined effect
genes with 2 or more alleles of multiple additive genes and are
controllin thus known as polygenic
g inheritance
phenotypi Genes act on phenotype in an
c additive manner, producing
variation combined effects
Effect of Little to no environmental Phenotypes can be modified by the
environm effect on phenotypic cumulative effect of varying
ent on expression eg. ABO blood environmental factors acting on the
phenotyp group different genotype
e Degree of expression allowed to
genetic potential hinges on
environmental factors eg. height
Mode of Bar graphs Normal distribution curve
phenotypi Qualitative: counts and Quantitative: population
c ratios parameters such as mean and
measure standard deviation
ment
Examples Inheritance of height in Height, weight, and intelligence in
pea plants humans

Chi-square test: statistical test for the significance of data that

consists of discontinuous/discrete variables; assumes:
Random fertilisation
Equal opportunity of survival among offspring
Large number of offspring produced
Null Hypothesis: there is no significant difference between the
observed and expected results. It assumes that any differences are due
to chance
Alternative Hypothesis: there is significant difference between the
observed and expected results. It assumes that differences are not due
to chance

If >, the probability that chance alone is the reason for the difference
of the observed from the expected results/ratio is less than 5%. The
deviation is significant; hence reject the null hypothesis in favour
of alternative hypothesis.
If <, the probability that chance alone is the reason for the difference
of the observed from the expected results/ratio is more than 5%. The
deviation is not significant; hence do not reject the null hypothesis.